Canonical Allele Identifier: CA2696723536

Gene: AMPD1

Linked Data

• dbSNP Id: rs2101714366

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677982del , CM000663.2:g.114677982del	GRCh38
NC_000001.10:g.115220603del , CM000663.1:g.115220603del	GRCh37
NC_000001.9:g.115022126del	NCBI36
NG_008012.1:g.22575del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1141del	ENSP00000358551.4:p.Ser381ValfsTer8
ENST00000520113.7:c.1153del MANE Select	ENSP00000430075.3:p.Ser385ValfsTer8
ENST00000637080.1:c.936del	ENSP00000489753.1:n.936del
ENST00000639077.1:n.818del
ENST00000369538.3:c.1240del	ENSP00000358551.3:p.Ser414ValfsTer8
ENST00000520113.6:c.1252del	ENSP00000430075.2:p.Ser418ValfsTer8
NM_000036.2:c.1252del	NP_000027.2:p.Ser418ValfsTer8
NM_001172626.1:c.1240del	NP_001166097.1:p.Ser414ValfsTer8
NM_000036.3:c.1153del MANE Select	NP_000027.3:p.Ser385ValfsTer8
NM_001172626.2:c.1141del	NP_001166097.2:p.Ser381ValfsTer8